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ProteomicsREEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy
REEP1 contributes to the shaping of the endoplasmic reticulum (ER) through conserved transmembrane hairpins (THs) and a long C-terminal amphipathic helix. Its loss-of-function causes spastic paraplegia due to degeneration of axons of cortical motoneurons projecting to spinal motoneurons. Patients wi...
ORGANISM(S): Homo sapiens (Human) 
2026-01-19 | PXD067700 | Pride
Reep1 Dhmn Membrane shaping Endoplasmic reticulum Ubiquitination Hsp 
GenomicsThe immunopathological landscape of human pre-TCRα deficiency: from rare to common variants
The immunopathological landscape of human pre-TCRα deficiency: from rare to common variants
PRJNA1020588 | ENA
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